Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.R391P
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RYR1

NM_000540.3:p.R391P

Associated Papers

Investigating the genetic susceptibility to exertional heat illness.

Gardner L et al.

Journal of Medical Genetics, 2020

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Savarese M et al.

Acta Neuropathologica Communications, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."